Christian R. Marshall - Publications, H-index & Citations

Christian R. Marshall

the hospital for sick children

76H指数

335论文数

3.6W被引数

收录论文 146

发表时间

Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism 病例报告：1例青少年患者中持续性孤立性高同型半胱氨酸血症，该患者患有乳糜泻且为MTHFR c.665C>T纯合子多态性：一种一碳代谢的多因素紊乱

Frontiers in Genetics

IF2.8

2026-09-20

OAAI

ZA Zainab Al Masseri; CR Christian R. Marshall; NM Nicole Martin; DC Dawn Cordeiro; LG Laura Guilder; MI Michal Inbar-Feigenberg

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort RNA测序在罕见疾病队列中的临床应用和分子洞察

Genome Medicine

IF11.2

2026-03-24

OAAI

Jamie C. Stark; Neta Pipko; Yijing Liang; Anna Szuto; Chung Ting Tsoi; Megan A. Dickson; Kyoko E. Yuki; Huayun Hou; Sydney Scholten; Kenzie Pulsifer; Meryl Acker; Meredith Laver; Harsha Murthy; Olivia M. Moran; Emily Bonnell; Nicole Liang; Jashanpreet Sidhu; Lucie Dupuis; Mohammad M. Ghahramani Seno; Marisa Chard; Rebekah K. Jobling; Jessie Cameron; Rose Chami; Michal Inbar-Feigenberg; Michael D. Wilson; David A. Chitayat; Kym M. Boycott; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Christian R. Marshall; James J. Dowling; Gregory Costain; Ashish R. Deshwar

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype

Clinical Genetics

IF2.3

2025-12-01

OAAI

Stephenson, Kirk A. J.; Shao, Zhuo; Tumber, Anupreet; Tavares, Erika; Ahmed, Kashif; Higginbotham, Edward J.; Marshall, Christian R.; Maynes, Jason T.; Rajala, Ammaji; Rajala, Raju V. S.; Heon, Elise; Vincent, Ajoy

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function 致病性UNC13A变异通过损害突触功能导致神经发育综合征

Nature Genetics

IF29

2025-10-22

OAAI

Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study 筛查罕见遗传诊断以评估其是否适合定制反义寡核苷酸疗法的开发：一项回顾性队列研究

Genetics in Medicine

IF6.2

2025-10-11

PREAI

David Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial 比较外显子组和基因组测序在罕见病诊断中的性能：一项随机实施效果试验

Genetics in Medicine

IF6.2

2025-10-10

PREAI

Robin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott

A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis 一项随机对照试验的微成本核算和成本后果分析，比较基因组测序与外显子组测序用于遗传诊断

Genetics in Medicine

IF6.2

2025-08-21

OAAI

Wendy J. Ungar; Vercancy Wu; Christian R. Marshall; Jackie Hwang; Robin Z. Hayeems; Kate Tsiplova; Meredith K. Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J. Stavropoulos; Viji Venkataramanan; Bowen Xiao; Gregory Costain; Mélanie Beaulieu Bergeron; Sarah Sawyer; Lynette Lau; Lijia Huang; Roberto Mendoza-Londono; Martin J. Somerville; Kym M. Boycott

Autosomal dominant Roquin-1 immunodeficiency and hyper-inflammation 常染色体显性Roquin-1免疫缺陷和超炎症

Journal of Allergy and Clinical Immunology

IF11.2

2025-08-05

PREAI

Amit Nahum; Nigel Sharfe; Daniele Merico; Kelli W. Williams; Dionne Aleman; Christian R. Marshall; Azhar Al Shaqaq; Abdulrahman Al Ghamdi; Harjit Dadi; Linda Vong; Stephen Betschel; Chaim M. Roifman

The evolution of health data ecosystems: An international survey 健康数据生态系统的演变：一项国际调查

american journal of human genetics

IF0

2025-07-21

PREAI

Jordan P. Lerner-Ellis; E. Magda Price; Shazia Subhani; Tiffany Boughtwood; Marie-Jo Brion; Augusto Rendon; Lene Cividanes; Jacob Gemmer; Danielle Ciofani; Nicolas Bertin; Seow Shih Wee; Stephen Robertson; Batoul Baz; Katrin Crameri; Sabine Österle; Valtteri Wirta; Per Sikora; Anna Lindstrand; Frédérique Nowak; Inês Amado; Nicola Jane Mulder; Andrea Ganna; Peter Goodhand; Lindsay D. Smith; Christian R. Marshall; Ma’n Zawati; Vincent Ferretti; Jacques L. Michaud; Dennis Bulman; Francois Bernier; Kym M. Boycott

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing 评估通过基因组测序预先评估的儿科队列中血液转录组谱的诊断影响

npj Genomic Medicine

IF4.8

2025-07-01

PREAI

Huayun Hou; Kyoko E. Yuki; Gregory Costain; Anna Szuto; Sierra Barnes; Arun K. Ramani; Alper Celik; Michael Braga; Meagan Gloven-Brown; Dimitri J. Stavropoulos; Sarah Bowdin; Ronald D. Cohn; Roberto Mendoza-Londono; Stephen W. Scherer; Michael Brudno; Christian R. Marshall; M. Stephen Meyn; Adam Shlien; James J. Dowling; Michael D. Wilson; Lianna Kyriakopoulou

Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study 基因组测序在自闭症中的临床应用: 来自基因组研究的说明性示例

JOURNAL OF MEDICAL GENETICS

IF3.7

2025-04-01

PREAI

Selvanayagam, Thanuja; Hoang, Ny; Sarikaya, Ege; Howe, Jennifer; Russell, Carolyn; Iaboni, Alana; Quirbach, Morgan; Marshall, Christian R.; Szatmari, Peter; Anagnostou, Evdokia; Vorstman, Jacob; Hartley, Dean M.; Scherer, Stephen W.

Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti 基因组测序揭示了与色素失禁症相关的IKBKG新型结构变异。

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2024-11-23

PREAI

Pipko, Neta; Oh, Rachel Youjin; Kaplan, Aiyana; Shugar, Andrea; Szuto, Anna; Weinstein, Miriam; Yoon, Grace; Mendoza-Londono, Roberto; Pope, Elena; Young, Ted; Marshall, Christian R.; Costain, Gregory; Lara-Corrales, Irene; Wang, Yiming

A call to action to scale up research and clinical genomic data sharing 呼吁采取行动扩大研究和临床基因组数据共享

NATURE REVIEWS GENETICS

IF52

2024-10-07

PREAI

Stark, Zornitza; Glazer, David; Hofmann, Oliver; Rendon, Augusto; Marshall, Christian R.; Ginsburg, Geoffrey S.; Lunt, Chris; Allen, Naomi; Effingham, Mark; Ward, Jillian Hastings; Hill, Sue L.; Ali, Raghib; Goodhand, Peter; Page, Angela; Rehm, Heidi L.; North, Kathryn N.; Scott, Richard H.

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-07-01

OAAI

Oh, Rachel Y.; Almail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko E.; Haque, Bushra; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Mendoza-Londono, Roberto; Shlien, Adam; Kyriakopoulou, Lianna G.; Walker, Susan; Dowling, James J.; Wilson, Michael D.; Costain, Gregory

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy 全面的全基因组序列分析提供了对脑瘫基因组结构的见解

NATURE GENETICS

IF31.8

2024-03-29

PREAI

Fehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruvahindrapuram, Bhooma; MacDonald, Jeffrey R.; Higginbotham, Edward J.; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Switzer, Lauren; Ng, Pamela; Wei, John; Danthi, Prakroothi S.; Pellecchia, Giovanna; Lamoureux, Sylvia; Ho, Karen; Pereira, Sergio L.; de Rijke, Jill; Sung, Wilson W. L.; Mowjoodi, Alireza; Howe, Jennifer L.; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Ghaffari, Siavash; Whitney, Joseph; Patel, Rohan V.; Hamdan, Omar; Shaath, Rulan; Trost, Brett; Knights, Shannon; Samdup, Dawa; McCormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Hilali, Murto; Hirschfeld, Kyle; Grover, Kritika; Bautista, Nelson X.; Han, Kara; Marshall, Christian R.; Yuen, Ryan K. C.; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piush; Moraes, Theo J.; Simons, Elinor; Maxwell, George; Shevell, Michael; Costain, Gregory; Michaud, Jacques L.; Hamdan, Fadi F.; Gauthier, Julie; Uguen, Kevin; Stavropoulos, Dimitri J.; Wintle, Richard F.; Oskoui, Maryam; Scherer, Stephen W.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

GENETICS IN MEDICINE

IF6.2

2023-12-01

OAAI

Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions

CLINICAL THERAPEUTICS

IF3.6

2023-08-01

PREAI

Ungar, Wendy J.; Hayeems, Robin Z.; Marshall, Christian R.; Gillespie, Meredith K.; Szuto, Anna; Chisholm, Caitlin; Stavropoulos, D. James; Huang, Lijia; Jarinova, Olga; Wu, Vercancy; Tsiplova, Kate; Lau, Lynnette; Lee, Whiwon; Venkataramanan, Viji; Sawyer, Sarah; Mendoza-Londono, Roberto; Somerville, Martin J.; Boycott, Kym M.

Gene copy number variation and pediatric mental health/neurodevelopment in a general population 一般人群的基因拷贝数变异和儿科精神卫生/神经发育

HUMAN MOLECULAR GENETICS

IF3.2

2023-05-08

OAAI

Zarrei, Mehdi; Burton, Christie L.; Engchuan, Worrawat; Higginbotham, Edward J.; Wei, John; Shaikh, Sabah; Roslin, Nicole M.; MacDonald, Jeffrey R.; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Manshaei, Roozbeh; Howe, Jennifer; Trost, Brett; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Yuen, Ryan K. C.; Wintle, Richard F.; Strug, Lisa J.; Stavropoulos, Dimitri J.; Vorstman, Jacob A. S.; Arnold, Paul; Merico, Daniele; Woodbury-Smith, Marc; Crosbie, Jennifer; Schachar, Russell J.; Scherer, Stephen W.

Trio RNA sequencing in a cohort of medically complex children

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-05-01

OAAI

Deshwar, Ashish R.; Yuki, Kyoko E.; Hou, Huayu; Liang, Yijing; Khan, Tayyaba; Celik, Alper; Ramani, Arun; Mendoza-Londono, Robert; Marshall, Christian R.; Brudno, Michael; Shlien, Adam; Meyn, M. Stephen; Hayeems, Robin Z.; McKinlay, Brandon J.; Klentrou, Panagiot; Wilson, Michael D.; Kyriakopoulou, Liann; Costain, Gregory; Dowling, James J.

Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus

JOURNAL OF RHEUMATOLOGY

IF3.4

2022-11-15

PREAI

Misztal, Melissa C.; Liao, Fangming; Couse, Madeline; Cao, Jingjing; Dominguez, Daniela; Lau, Lynette; Marshall, Christian R.; Naumenko, Sergey; Knight, Andrea M.; Levy, Deborah M.; Hiraki, Linda T.

研究方向